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D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity

โœ Scribed by L. Wagner; G. F. Hoffmann; C. Jakobs

Book ID
110223114
Publisher
Springer
Year
1998
Tongue
English
Weight
95 KB
Volume
21
Category
Article
ISSN
0141-8955

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Evidence for genetic heterogeneity in D-
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria
โœ Martijn Kranendijk; Eduard A. Struys; K. Michael Gibson; Wjera V. Wickenhagen; J ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 208 KB

We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH)